The Mediator complex is a system that regulates protein-coding gene transcription, where mediator of RNA polymerase II transcription subunit 16 (MED16) is a subunit belonging to this system. Pathogenic genetic variants in Mediator complex subunits usually lead to neurodevelopmental and neurodegenerative diseases with a variety of clinical symptoms, usually designated as MEDopathies.
Investigators from the University of Pennsylvania have presented data regarding the relationship of angiopoietin-2 (ANG2) and its prognostic impact on traumatic brain injury (TBI). The ANG2 plasmatic levels were measured in patients with TBI (n=362), orthopedic injury controls (n=89) and healthy controls (n=64).
Ignite Biomedical Inc. and Liquid Biosciences have announced the discovery of biomarkers to diagnose substance use disorder (SUD). The set of biomarkers includes some that have not previously been associated with addiction and spans all 6 SUDs (opioid, cocaine, methamphetamine, alcohol, nicotine and cannabis use disorders).
Esophageal basaloid squamous cell carcinoma (EBSCC) is a rare type of esophageal squamous cell cancer (ESCC) characterized by basaloid features and considered to be more aggressive than ESCC. RNA sequencing was performed from 20 pure EBSCC and 11 poorly differentiated ESCC samples; researchers identified chondroitin sulfate proteoglycan 4 (CSPG4) as a potential marker of EBSCC at the mRNA level, which was verified by immunohistochemistry in these same samples.
Malignant melanoma (MM) is among the most lethal cutaneous neoplasms, frequently tied to metastasis and poor outcomes. Neural cell adhesion molecule L1 (L1CAM) is a protein that has been associated with poor prognosis in several cancer types, but its association with MM is poorly understood.
The detection of metastases in Merkel cell carcinoma (MCC) requires additional testing, such as pancytokeratin (panCK) or CK20, with no guarantee of success. Recent findings have identified transcription factor SOX11 and insulinoma-associated protein 1 (INSM1) as sensitive nuclear neuroendocrine markers, but their usefulness in MCC has not been proven.
Clear cell renal cell carcinoma (ccRCC) is still a clinical challenge due to its high metastasis rate at diagnosis and therapy resistance. It accounts for about 75%-80% of RCC cases. The magnesium transporter NIPA4 (NIPAL4) may influence tumor progression, but there is lack of knowledge on its prognostic value and role in ccRCC.
A variant burden analysis for bipolar disorder was performed using gene-based aggregation of loss-of-function variants in whole-genome sequencing data from Iceland and the UK Biobank; the association between bipolar disorder and the burden of loss-of-function variants was tested in 13,786 genes.
Researchers from Guangdong Medical University published data from a study that aimed to identify novel biomarkers that would allow for comprehensive assessment of prognosis and immunotherapy response in patients with testicular germ cell tumors (TGCT).
Metabolic reprogramming in cancer involves glycolytic enzymes acquiring noncanonical functions and acting as protein kinases, which contribute to tumor progression and present new therapeutic opportunities. While hexokinase domain-containing protein 1 (HKDC1), a hexokinase family member, has been implicated in tumor growth and immune evasion, its nonmetabolic roles remain poorly understood.
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